ClinVar Miner

Submissions for variant NM_005321.2(H1-4):c.436_458del (p.Thr146fs) (rs1131690807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008411 SCV001168180 pathogenic not provided 2018-11-05 criteria provided, single submitter clinical testing The c.436_458del23 variant in the HIST1H1E gene has been reported previously as de novo in an individual with clinical findings consistent with HIST1H1E-related disorder (Tatton-Brown et al., 2017). The c.436_458del23 variant causes a frameshift starting with codon Threonine 146, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 42 of the new reading frame, denoted p.Thr146AspfsX42. This variant is predicted to cause loss of normal protein function through protein truncation. The c.436_458del23 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.436_458del23 as a pathogenic variant.
OMIM RCV000492643 SCV000580689 pathogenic RAHMAN SYNDROME 2017-06-27 no assertion criteria provided literature only

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